Results 51 to 60 of about 3,263 (170)

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.

PLoS ONE, 2019
Glycosaminoglycans in the skin interstitium and endothelial surface layer have been shown to be involved in local sodium accumulation without commensurate water retention. Dysfunction of heparan sulfate glycosaminoglycans may therefore disrupt sodium and
Rik H G Olde Engberink, Judith de Vos, Angela van Weert, Yahua Zhang, Naomi van Vlies, Bert-Jan H van den Born, Jens M Titze, Ed van Bavel, Liffert Vogt   +8 more
doaj   +1 more source

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

Frontiers in Genetics, 2020
Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang, Liangying Zhong, Yan Xu, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Sacha Schutz, Claude Férec, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo   +13 more
doaj   +1 more source

Identification of the genes chemosensitizing hepatocellular carcinoma cells to interferon-α/5-fluorouracil and their clinical significance. [PDF]

PLoS ONE, 2013
The incidence of advanced hepatocellular carcinoma (HCC) is increasing worldwide, and its prognosis is extremely poor. Interferon-alpha (IFN-α)/5-fluorouracil (5-FU) therapy is reportedly effective in some HCC patients.
Tomohiko Sakabe, Hiroyuki Tsuchiya, Keita Kanki, Junya Azumi, Kazue Gonda, Yusuke Mizuta, Daisaku Yamada, Hiroshi Wada, Kohei Shomori, Hiroaki Nagano, Goshi Shiota   +10 more
doaj   +1 more source

Understanding bidirectional and transactional relations in parent and offspring mental health: Using COVID‐19 pandemic data to gain insights

JCPP Advances, Volume 6, Issue 2, June 2026.
This study found that parent internalising symptoms predicted internalising symptoms in younger children, with no evidence of child‐driven effects. Among adolescents, mental health symptoms showed bidirectional associations with parent internalising symptoms, particularly for externalising symptoms.
Martha Oakes, Lowrie Hilladakis, Polly Waite, Cathy Creswell, Simona Skripkauskaite   +4 more
wiley   +1 more source

Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates

International Dental Journal
Summary: Objectives: The exostosins (EXT), which are responsible for heparan sulfate backbone synthesis and play a vital role in tissue homeostasis, have been reported to be correlated with prognosis of various cancers.
Yiping Wang, Yan Huang, Houwei Zhu, Zhenzhen Guo, Jun Cheng, Churen Zhang, Ming Zhong   +6 more
doaj   +1 more source

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

Human Genomics, 2020
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the extracellular matrix.
Rachel K. Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R. Griffiths, Larisa M. Haupt   +4 more
doaj   +1 more source

Study of Drug Target Identification and Associated Molecular Mechanisms for the Therapeutic Activity and Hair Follicle Induction of Two Ashwagandha Extracts Having Differential Withanolide Constitutions

Journal of Nutrition and Metabolism, 2023
Background. Ashwagandha extracts play a significant role in traditional Indian medicine to help treat a wide range of disorders from amnesia, erectile dysfunction, neurodegenerative and cardiovascular diseases, cancer, stress, anxiety, and many more ...
Franco Cavaleri, Sukalpa Chattopadhyay, Vrushalee Palsule, Pradip Kumar Kar, Ritam Chatterjee   +4 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line SMBCi010-A from a male with Multiple Osteochondroma carrying a EXT1 mutation

Stem Cell Research, 2021
Multiple Osteochondroma is an abnormal skeleton development autosomal dominant genetic disease which caused by the mutation of EXT1 gene. In this study, we generated induced pluripotent stem cells (iPSCs) from the mesenchymal stem cells (MSCs) of a 12 ...
Yazhou Cui, Jing Wang, Genglin Zhang, Jing Luan, Jinxiang Han   +4 more
doaj   +1 more source

Presence of IDH2 and TP53 mutations significantly reduces survival of patients with chondrosarcoma

Cancer, Volume 132, Issue 7, 1 April 2026.
Abstract Background Chondrosarcoma (CS) has a prognosis largely influenced by tumor grade. Although IDH mutations have been reported in CS, impact on patient`s survival remains controversial. This study aims to assess prognostic relevance of IDH mutations on disease‐specific survival (DSS), metastasis‐free survival (MFS), and local recurrence‐free ...
Anne Weidlich, Klaus‐Dieter Schaser, Tareq A. Juratli, Jessica Pablik, Sven Märdian, Kathrin Hauptmann, Philipp Schwabe, Stephan Richter, Hagen Fritzsche   +8 more
wiley   +1 more source

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

PLoS ONE, 2014
BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen   +8 more
doaj   +1 more source